Incidental Mutation 'R8994:Fars2'
| ID |
684609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fars2
|
| Ensembl Gene |
ENSMUSG00000021420 |
| Gene Name |
phenylalanine-tRNA synthetase 2, mitochondrial |
| Synonyms |
Fars1, 2810431B21Rik, 6720478K01Rik |
| MMRRC Submission |
068825-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8994 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
36301373-36721569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36388849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 113
(Y113N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021857]
[ENSMUST00000099582]
[ENSMUST00000223796]
[ENSMUST00000224241]
[ENSMUST00000224611]
[ENSMUST00000224916]
|
| AlphaFold |
Q99M01 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021857
AA Change: Y113N
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021857
Gene: ENSMUSG00000021420
AA Change: Y113N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_2d
|
69 |
208 |
3.3e-18 |
PFAM |
|
Pfam:tRNA-synt_2d
|
223 |
343 |
9.5e-31 |
PFAM |
|
FDX-ACB
|
358 |
450 |
1.5e-32 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099582
|
| SMART Domains |
Protein: ENSMUSP00000097177
Gene: ENSMUSG00000021420
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_2d
|
4 |
111 |
2.6e-33 |
PFAM |
|
FDX-ACB
|
126 |
218 |
1.5e-32 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223796
AA Change: Y113N
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224241
AA Change: Y113N
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224611
AA Change: Y113N
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224916
AA Change: Y113N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.1%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
A |
14: 118,771,556 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
GTT |
GT |
13: 81,553,457 (GRCm39) |
|
probably null |
Het |
| Ank2 |
A |
T |
3: 126,723,471 (GRCm39) |
M952K |
probably benign |
Het |
| Ccser2 |
A |
T |
14: 36,662,076 (GRCm39) |
N369K |
probably benign |
Het |
| Cd300e |
A |
T |
11: 114,946,348 (GRCm39) |
Y38N |
probably damaging |
Het |
| Crat |
G |
T |
2: 30,297,887 (GRCm39) |
F212L |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 31,009,807 (GRCm39) |
S3733T |
probably benign |
Het |
| Fam135a |
C |
T |
1: 24,067,621 (GRCm39) |
D1083N |
probably damaging |
Het |
| Fam174a |
C |
A |
1: 95,241,689 (GRCm39) |
P50T |
possibly damaging |
Het |
| Fpr3 |
T |
C |
17: 18,191,341 (GRCm39) |
I204T |
possibly damaging |
Het |
| Frmd3 |
T |
C |
4: 74,088,985 (GRCm39) |
V394A |
probably benign |
Het |
| Garin5a |
G |
T |
7: 44,146,342 (GRCm39) |
R16L |
probably benign |
Het |
| Gpbp1 |
C |
A |
13: 111,603,384 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,441,629 (GRCm39) |
F1197Y |
probably benign |
Het |
| Herc3 |
A |
G |
6: 58,851,328 (GRCm39) |
T526A |
probably benign |
Het |
| Hnrnpul2 |
T |
C |
19: 8,802,350 (GRCm39) |
C406R |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,210,695 (GRCm39) |
Q220R |
probably damaging |
Het |
| Igf2r |
T |
A |
17: 12,935,537 (GRCm39) |
Y651F |
possibly damaging |
Het |
| Kcng1 |
C |
T |
2: 168,110,768 (GRCm39) |
R132Q |
probably benign |
Het |
| Kif1a |
G |
A |
1: 92,983,457 (GRCm39) |
S680F |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,279,939 (GRCm39) |
D27G |
|
Het |
| Klk12 |
A |
T |
7: 43,421,485 (GRCm39) |
T180S |
probably damaging |
Het |
| Klk1b27 |
A |
G |
7: 43,705,136 (GRCm39) |
H101R |
probably damaging |
Het |
| Lrp6 |
C |
A |
6: 134,518,656 (GRCm39) |
E136D |
probably benign |
Het |
| Mcm9 |
T |
C |
10: 53,424,620 (GRCm39) |
I657V |
probably benign |
Het |
| Med13l |
A |
C |
5: 118,866,226 (GRCm39) |
K427Q |
possibly damaging |
Het |
| Nol10 |
A |
T |
12: 17,402,717 (GRCm39) |
D63V |
probably damaging |
Het |
| Nudcd2 |
A |
G |
11: 40,624,862 (GRCm39) |
T24A |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,172,645 (GRCm39) |
|
probably null |
Het |
| Or10al7 |
T |
C |
17: 38,366,220 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Or10p1 |
A |
T |
10: 129,444,005 (GRCm39) |
L115H |
probably damaging |
Het |
| Or51af1 |
A |
T |
7: 103,141,800 (GRCm39) |
M95K |
probably benign |
Het |
| Or5p81 |
G |
A |
7: 108,267,169 (GRCm39) |
C182Y |
probably damaging |
Het |
| Or8c19-ps1 |
A |
T |
9: 38,220,581 (GRCm39) |
*163Y |
probably null |
Het |
| Piezo1 |
T |
C |
8: 123,209,829 (GRCm39) |
D2314G |
unknown |
Het |
| Pkhd1l1 |
T |
C |
15: 44,410,499 (GRCm39) |
F2669L |
probably damaging |
Het |
| Plpp4 |
A |
G |
7: 128,981,157 (GRCm39) |
R178G |
probably damaging |
Het |
| Ppp1r13l |
G |
T |
7: 19,102,695 (GRCm39) |
A37S |
possibly damaging |
Het |
| Prl6a1 |
A |
G |
13: 27,499,417 (GRCm39) |
T62A |
probably benign |
Het |
| Ranbp2 |
C |
A |
10: 58,315,891 (GRCm39) |
Q2204K |
possibly damaging |
Het |
| Rbm48 |
T |
A |
5: 3,640,795 (GRCm39) |
M195L |
probably benign |
Het |
| Rigi |
C |
A |
4: 40,205,941 (GRCm39) |
E884* |
probably null |
Het |
| Shank3 |
T |
A |
15: 89,417,416 (GRCm39) |
F4L |
probably benign |
Het |
| Slain2 |
T |
A |
5: 73,114,984 (GRCm39) |
V405D |
probably damaging |
Het |
| Slitrk5 |
A |
C |
14: 111,918,227 (GRCm39) |
D617A |
probably benign |
Het |
| Sp140 |
T |
A |
1: 85,549,603 (GRCm39) |
|
probably null |
Het |
| Stk32a |
A |
G |
18: 43,443,542 (GRCm39) |
T240A |
probably benign |
Het |
| Timm21 |
T |
C |
18: 84,969,489 (GRCm39) |
|
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,854,538 (GRCm39) |
S904G |
probably benign |
Het |
| Tmem86b |
A |
G |
7: 4,632,706 (GRCm39) |
C53R |
unknown |
Het |
| Wdr33 |
T |
C |
18: 31,960,459 (GRCm39) |
L41P |
probably benign |
Het |
| Zfp112 |
A |
C |
7: 23,825,490 (GRCm39) |
H490P |
probably benign |
Het |
| Zfp455 |
T |
C |
13: 67,355,478 (GRCm39) |
Y184H |
probably damaging |
Het |
|
| Other mutations in Fars2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01876:Fars2
|
APN |
13 |
36,721,285 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02348:Fars2
|
APN |
13 |
36,721,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02406:Fars2
|
APN |
13 |
36,594,145 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02523:Fars2
|
APN |
13 |
36,388,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02896:Fars2
|
APN |
13 |
36,388,825 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03299:Fars2
|
APN |
13 |
36,721,384 (GRCm39) |
nonsense |
probably null |
|
|
IGL03308:Fars2
|
APN |
13 |
36,388,670 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0419:Fars2
|
UTSW |
13 |
36,721,285 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0546:Fars2
|
UTSW |
13 |
36,388,569 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1918:Fars2
|
UTSW |
13 |
36,388,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3120:Fars2
|
UTSW |
13 |
36,430,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3844:Fars2
|
UTSW |
13 |
36,389,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Fars2
|
UTSW |
13 |
36,389,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4795:Fars2
|
UTSW |
13 |
36,721,400 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4796:Fars2
|
UTSW |
13 |
36,721,400 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4979:Fars2
|
UTSW |
13 |
36,388,564 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5262:Fars2
|
UTSW |
13 |
36,526,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5413:Fars2
|
UTSW |
13 |
36,388,545 (GRCm39) |
nonsense |
probably null |
|
|
R5475:Fars2
|
UTSW |
13 |
36,388,553 (GRCm39) |
missense |
probably benign |
|
|
R5635:Fars2
|
UTSW |
13 |
36,594,129 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6437:Fars2
|
UTSW |
13 |
36,388,846 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7637:Fars2
|
UTSW |
13 |
36,388,758 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7676:Fars2
|
UTSW |
13 |
36,389,026 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8013:Fars2
|
UTSW |
13 |
36,389,068 (GRCm39) |
nonsense |
probably null |
|
|
R8014:Fars2
|
UTSW |
13 |
36,389,068 (GRCm39) |
nonsense |
probably null |
|
|
R8063:Fars2
|
UTSW |
13 |
36,388,880 (GRCm39) |
nonsense |
probably null |
|
|
R8273:Fars2
|
UTSW |
13 |
36,594,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8837:Fars2
|
UTSW |
13 |
36,430,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9067:Fars2
|
UTSW |
13 |
36,388,846 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9110:Fars2
|
UTSW |
13 |
36,430,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9169:Fars2
|
UTSW |
13 |
36,416,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Fars2
|
UTSW |
13 |
36,388,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Fars2
|
UTSW |
13 |
36,388,714 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCAGTGTGCTGGAGATAC -3'
(R):5'- TCAATCTGGTCACGACGATACAC -3'
Sequencing Primer
(F):5'- GCTGGAGATACTTGGTAAATCCTAC -3'
(R):5'- TACCACAAGGAAGGCATTAAGTC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation